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https://www.readbyqxmd.com/read/28814173/early-diagnosis-of-severe-combined-immunodeficiency-scid-in-turkey-a-pilot-study
#1
Ceren Can, Şahin Hamilçıkan, Emrah Can
OBJECTIVE: Severe combined immunodeficiency (SCID) is a neonatal emergency. As the T cell receptor excision circles (TREC) test is not cost effective for neonatal screening of SCID in developing countries, this pilot study's objective aimed at identifying preliminary data to enable SCID identification in the general population. METHODS: This observational study was performed in Bagcılar Training and Research Hospital, Istanbul, Turkey. Cord-blood complete blood count (CBC) was recorded in all neonates included in the study...
August 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28812867/ultrasensitive-silicon-nanowire-sensor-developed-by-a-special-ag-modification-process-for-rapid-nh3-detection
#2
Yuxiang Qin, Diao Liu, Tianyi Zhang, Zhen Cui
Surface functionalization is very effective in enhancing sensing properties of a chemiresistive gas sensor. In this work, we develop a novel and cost-effective process to prepare Ag-modified silicon nanowire (SiNW) sensors and further suggest a resistance effect model to clarify the enhanced sensing mechanism of Ag-modified SiNWs. The SiNWs were formed via metal-assisted chemical etching (MACE), and the Ag nanoparticle (NP) modification was achieved in situ based on the MACE-produced Ag dendrites by involving a crucial anisotropic postetching of TMAH...
August 16, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28807883/simultaneous-afm-topography-and-recognition-imaging-at-the-plasma-membrane-of-mammalian-cells
#3
REVIEW
Lilia A Chtcheglova, Peter Hinterdorfer
Elucidation the nano-organization of membrane proteins at/within the plasma membrane is probably the most demanding and still challenging task in cell biology since requires experimental approaches with nanoscale resolution. During last decade, atomic force microscopy (AFM)-based simultaneous topography and recognition imaging (TREC) has become a powerful tool to quickly obtain local receptor nano-maps on complex heterogeneous biosurfaces such as cells and membranes. Here we emphasize the TREC technique and explain how to unravel the nano-landscape of mammalian cells...
August 11, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28791007/prospective-study-of-a-cohort-of-russian-nijmegen-breakage-syndrome-patients-demonstrating-predictive-value-of-low-kappa-deleting-recombination-excision-circle-krec-numbers-and-beneficial-effect-of-hematopoietic-stem-cell-transplantation-hsct
#4
Elena Deripapa, Dmitry Balashov, Yulia Rodina, Alexandra Laberko, Natalya Myakova, Nataliia V Davydova, Maria A Gordukova, Dmitrii S Abramov, Galina V Pay, Larisa Shelikhova, Andrey P Prodeus, Mikhail A Maschan, Alexey A Maschan, Anna Shcherbina
BACKGROUND: Nijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features. It predominantly occurs in Slavic populations that have a high frequency of carriers with the causative NBN gene c.657_661del5 mutation. Due to the rarity of the disease in the rest of the world, studies of NBS patients are few. Here, we report a prospective study of a cohort of Russian NBS patients. METHODS: 35 Russian NBS patients of ages 1-19 years, referred to our Center between years 2012 and 2016, were prospectively studied...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28758054/instance-search-retrospective-with-focus-on-trecvid
#5
George Awad, Wessel Kraaij, Paul Over, Shin'ichi Satoh
This paper presents an overview of the Video Instance Search benchmark which was run over a period of 6 years (2010-2015) as part of the TREC Video Retrieval (TRECVID) workshop series. The main contributions of the paper include i) an examination of the evolving design of the evaluation framework and its components (system tasks, data, measures); ii) an analysis of the influence of topic characteristics (such as rigid/non rigid, planar/non-planar, stationary/mobile on performance; iii) a high-level overview of results and best-performing approaches...
March 2017: International Journal of Multimedia Information Retrieval
https://www.readbyqxmd.com/read/28758046/medical-question-answering-for-clinical-decision-support
#6
Travis R Goodwin, Sanda M Harabagiu
The goal of modern Clinical Decision Support (CDS) systems is to provide physicians with information relevant to their management of patient care. When faced with a medical case, a physician asks questions about the diagnosis, the tests, or treatments that should be administered. Recently, the TREC-CDS track has addressed this challenge by evaluating results of retrieving relevant scientific articles where the answers of medical questions in support of CDS can be found. Although retrieving relevant medical articles instead of identifying the answers was believed to be an easier task, state-of-the-art results are not yet sufficiently promising...
October 2016: Proceedings of the ... ACM International Conference on Information & Knowledge Management
https://www.readbyqxmd.com/read/28747600/severe-combined-immunodeficiency-from-its-discovery-to-the-perspective
#7
Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio
  Severe combined immunodeficiency (SCID) is impaired in lymphocyte development and function. Affected children have extreme susceptibility to infections, which are fatal in the first year of life without treatment. The estimate of incidence is one in approximately 50,000 live birth. The first series of diseases were described in 1950s, and all patients died in infancy. The first transplant for SCID was carried out in 1968, and it has been described that SCID patients could be treated by hematopoietic stem cell transplantation (HSCT) since then...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28723581/the-structure-and-function-of-cell-membranes-studied-by-atomic-force-microscopy
#8
REVIEW
Yan Shi, Mingjun Cai, Lulu Zhou, Hongda Wang
The cell membrane, involved in almost all communications of cells and surrounding matrix, is one of the most complicated components of cells. Lack of suitable methods for the detection of cell membranes in vivo has sparked debates on the biochemical composition and structure of cell membranes over half a century. The development of single molecule techniques, such as AFM, SMFS, and TREC, provides a versatile platform for imaging and manipulating cell membranes in biological relevant environments. Here, we discuss the latest developments in AFM and the progress made in cell membrane research...
July 16, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28715283/temperate-water-immersion-as-a-treatment-for-hyperthermic-humans-wearing-american-football-uniforms
#9
Kevin C Miller, Tyler Truxton, Blaine Long
CONTEXT:   Cold-water immersion (CWI; 10°C) can effectively reduce body core temperature even if a hyperthermic human is wearing a full American football uniform (PADS) during treatment. Temperate-water immersion (TWI; 21°C) may be an effective alternative to CWI if resources for the latter (eg, ice) are unavailable. OBJECTIVE:   To measure rectal temperature (Trec) cooling rates, thermal sensation, and Environmental Symptoms Questionnaire (ESQ) scores of participants wearing PADS or shorts, undergarments, and socks (NOpads) before, during, and after TWI...
August 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28694137/idiopathic-t-cell-lymphopenia-identified-in-new-york-state-newborn-screening
#10
Stephanie Albin-Leeds, Juliana Ochoa, Harshna Mehta, Beth H Vogel, Michele Caggana, Vincent Bonagura, Heather Lehman, Mark Ballow, Arye Rubinstein, Subhadra Siegel, Leonard Weiner, Geoffrey A Weinberg, Charlotte Cunningham-Rundles
Quantification of T-cell receptor excision circles (TRECs) for newborn screening for SCID has advanced the diagnosis of severe combined immune deficiency (SCID). However, it has led to the identification of infants with T cell lymphopenia without known cause. The clinical characteristics, appropriate laboratory monitoring, and outcomes of patients remain unclear. We performed a retrospective review of clinical and laboratory studies for 26 infants collected from 7 New York State referral centers from 2010 to 2016 with low TRECs (mean, 70copies/μl) and subnormal CD3 counts (mean, 1150/cubicmm)...
July 8, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28597365/a-novel-pathogenic-frameshift-variant-of-cd3e-gene-in-two-t-b-nk-scid-patients-from-turkey
#11
Sinem Firtina, Yuk Yin Ng, Ozden Hatirnaz Ng, Serdar Nepesov, Osman Yesilbas, Meltem Kilercik, Nihan Burtecene, Suzan Cinar, Yildiz Camcioglu, Ugur Ozbek, Muge Sayitoglu
Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency, which is characterized by the dysfunction and/or absence of T lymphocytes. Early diagnosis of SCID is crucial for overall survival, and if it remains untreated, SCID is often fatal. Next-generation sequencing (NGS) has become a rapid, high-throughput technology, and has already been proven to be beneficial in medical diagnostics. In this study, a targeted NGS panel was developed to identify the genetic variations of SCID by using SmartChip-TE technology, and a novel pathogenic frameshift variant was found in the CD3E gene...
June 9, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28591258/immune-development-in-hiv-exposed-uninfected-children-born-to-hiv-infected-women
#12
Maristela Miyamoto, Aída F T B Gouvêa, Erika Ono, Regina Célia M Succi, Savita Pahwa, Maria Isabel de Moraes-Pinto
Immunological and clinical findings suggestive of some immune dysfunction have been reported among HIV-exposed uninfected (HEU) children and adolescents. Whether these defects are persistent or transitory is still unknown. HEU pediatric population at birth, 12 months, 6-12 years were evaluated in comparison to healthy age-matched HIV-unexposed controls. Plasma levels of LPS, sCD14, cytokines, lymphocyte immunophenotyping and T-cell receptor excision circles (TREC) were assessed. HEU and controls had similar LPS levels, which remained low from birth to 6-12 years; for plasma sCD14, IL-2, IL-6, IL-7, IL-10, IL-12p70, IL-13, IL-17, IFN-γ, TNF-α, G-CSF, GM-CSF and MCP-1, which increased from birth to 12 months and then decreased at 6-12 years; and for TREC/106 PBMC at birth in HEU and controls...
June 1, 2017: Revista do Instituto de Medicina Tropical de São Paulo
https://www.readbyqxmd.com/read/28554917/optimisation-and-validation-of-a-remote-monitoring-system-onco-trec-for-home-based-management-of-oral-anticancer-therapies-an-italian-multicentre-feasibility-study
#13
Alessandro Passardi, Mimma Rizzo, Francesca Maines, Carlo Tondini, Alberto Zambelli, Roberto Vespignani, Daniele Andreis, Ilaria Massa, Marco Dianti, Stefano Forti, Enrico Maria Piras, Claudio Eccher
INTRODUCTION: Despite the growing number of oral agents available for cancer treatment, their efficacy may be reduced due to the lack of adherence, inappropriate adverse event self-management and arbitrary dose adjustment. The management of anticancer therapies could exponentially benefit from the introduction of mobile health technologies in a highly integrated electronic oncology system. METHODS AND ANALYSIS: We plan to customise and fine-tune an existing monitoring TreC platform used in different chronic diseases in the oncology setting...
May 29, 2017: BMJ Open
https://www.readbyqxmd.com/read/28544224/quantification-of-specific-t-and-b-cells-immunological-markers-in-children-with-chronic-and-transient-itp
#14
Sarina Levy-Mendelovich, Atar Lev, Shraga Aviner, Nurit Rosenberg, Caim Kaplinsky, Nechama Sharon, Hagit Miskin, Aviya Dvir, Gili Kenet, Irit Eisen Schushan, Raz Somech
BACKGROUND: Immune thrombocytopenic purpura (ITP) is characterized by a transient (nonchronic) or permanent (chronic) decline in the number of platelets. Predicting the course of ITP, at the time of diagnosis, is of importance. Here we studied at diagnosis, clinical and immunological parameters in order to distinguish between different courses. The latter included the measure of new B and T cells using quantification of kappa-deleting recombination excision circles (KRECs) and T-cell receptor excision circles (TRECs), respectively...
May 22, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28538498/ghrelin-protects-the-thymic-epithelium-from-conditioning-regimen-induced-damage-and-promotes-the-restoration-of-cd4-t-cells-in-mice-after-bone-marrow-transplantation
#15
Jingxia Xu, Junyu S Zhu, Xianyu Tian, Qixin Sun, Jianhui Xu, Yuxian Huang, Yingzhi He, Zhiwei Huang, Bingyi Wu
BACKGROUND: The delay in immune reconstitution after hematopoietic stem cell transplantation (HSCT), especially a delay in central immune reconstitution, leads to opportunistic infections and disease relapse after transplantation and affects the long-term outcome of HSCT. This delay is mainly attributable to thymic damage after myeloablative chemotherapy and radiotherapy METHODS: We established a model of allogeneic bone marrow transplantation (BMT) in mice and administered ghrelin (GRL) 7 days before the conditioning regimen or the day after BMT...
May 24, 2017: Transplantation
https://www.readbyqxmd.com/read/28500641/t-and-b-cell-clonal-expansion-in-ras-associated-lymphoproliferative-disease-rald-as-revealed-by-next-generation-sequencing
#16
S Levy-Mendelovich, A Lev, E Rechavi, O Barel, H Golan, B Bielorai, Y Neumann, A J Simon, R Somech
Ras-associated lymphoproliferative disease (RALD) is an autoimmune lymphoproliferative syndrome (ALPS)-like disease caused by mutations in Kirsten rat sarcoma viral oncogene homologue (KRAS) or neuroblastoma RAS viral (V-Ras) oncogene homologue (NRAS). The immunological phenotype and pathogenesis of RALD have yet to be studied extensively. Here we report a thorough immunological investigation of a RALD patient with a somatic KRAS mutation. Patient lymphocytes were analysed for phenotype, immunoglobulin levels and T cell proliferation capacity...
September 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28493158/common-variable-immunodeficiency-caused-by-fanc-mutations
#17
Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama
Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which are known to be the cause of different diseases, have recently been reported as the cause of CVID in patients by performing whole exome sequencing (WES) analysis. Here, we found FANC gene mutations as a cause of adult-onset CVID in two patients. B cells were absent and CD4(+) T cells were skewed toward CD45RO(+) memory T cells. T-cell receptor excision circles (TRECs) and signal joint kappa-deleting recombination excision circles (sjKRECs) were undetectable in both patients...
July 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28487086/an-evaluation-of-the-trec-assay-with-regard-to-the-integration-of-scid-screening-into-the-dutch-newborn-screening-program
#18
Maartje Blom, Ingrid Pico-Knijnenburg, Marja Sijne-van Veen, Anita Boelen, Robbert G M Bredius, Mirjam van der Burg, Peter C J I Schielen
Newborn screening of severe combined immunodeficiency through the detection of T-cell receptor excision circles will provide the opportunity of treating before the occurrence of life-threatening infections. With the EnLite Neonatal TREC assay (PerkinElmer) and end-point PCR, 39 samples (3.0%) of 1295 heel prick cards of the Dutch newborn screening program required a retest after initial analysis. After retest, 21 samples (1.62%) gave TREC levels below cut-off. A significant reduction in TREC levels was observed in heel prick cards stored for three months (n=33) and one year (n=33)...
July 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28455199/upper-body-compression-garment-physiological-effects-while-cycling-in-a-hot-environment
#19
Iker Leoz-Abaurrea, Roberto Aguado-Jiménez
OBJECTIVE: The purpose of the present study was to investigate the effects of an upper body compression garment (UBCG) on physiologic and perceptual responses while cycling in a hot environment. METHODS: Twenty recreational road cyclists were pair-matched for age, anthropometric data, and fitness level (V̇O2max) and randomly assigned to a control (CON) group (n=10) of cyclists who wore a conventional t-shirt or to a group (n=10) of cyclists who wore UBCG. Test session consisted of cycling at a fixed load (~50% V̇O2max) for 30 minutes at an ambient temperature of ~40ºC (39...
April 25, 2017: Wilderness & Environmental Medicine
https://www.readbyqxmd.com/read/28408361/design-of-a-mobile-app-for-nutrition-education-trec-lifestyle-and-formative-evaluation-with-families-of-overweight-children
#20
Silvia Gabrielli, Marco Dianti, Rosa Maimone, Marta Betta, Lorena Filippi, Monica Ghezzi, Stefano Forti
BACKGROUND: Nutrition and diet apps represent today a popular area of mobile health (mHealth), offering the possibility of delivering behavior change (BC) interventions for healthy eating and weight management in a scalable and cost-effective way. However, if commercial apps for pediatric weight management fail to retain users because of a lack of theoretical background and evidence-based content, mHealth apps that are more evidence-based are found less engaging and popular among consumers...
April 13, 2017: JMIR MHealth and UHealth
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